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knowledgeAs first presented on Professional Day at the 2015 CHARGE Syndrome Conference:

Updated clinical diagnostic criteria for CHARGE syndrome have just been published by a team that includes two of our own:  Caitlin Hale, a genetic counselor who attended the 2015 conference as a Davenport Fellow, and Donna Martin, a medical geneticist long interested in CHARGE syndrome and the chair of the Foundation’s scientific advisory board.

This important paper was published online in the American Journal of Medical Genetics.  The proposed updated clinical criteria proposed CHD7 variants as a major feature, along with coloboma, choanal atresia and ear findings. CHARGE remains a complicated condition with lots of variability – no two children are exactly alike and no one feature is required for a diagnosis.

This paper emphasizes the usefulness of CHD7 testing in the clinical diagnostic evaluation of possible CHARGE syndrome.

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.